List of variants in gene RIMS1 reported as uncertain significance for perceptual disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 96

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HGVS	dbSNP	gnomAD frequency
NM_014989.7(RIMS1):c.1776G>A (p.Glu592=)	rs77121218	0.01826
NM_014989.7(RIMS1):c.438C>T (p.Arg146=)	rs142196418	0.00298
NM_014989.7(RIMS1):c.*1702G>A	rs539479642	0.00121
NM_014989.7(RIMS1):c.-127G>A	rs371884894	0.00121
NM_014989.7(RIMS1):c.3465G>A (p.Ala1155=)	rs190562383	0.00108
NM_014989.7(RIMS1):c.*1690G>A	rs773379819	0.00059
NM_014989.7(RIMS1):c.-121C>T	rs532687860	0.00045
NM_014989.7(RIMS1):c.*1280G>A	rs574994605	0.00043
NM_014989.7(RIMS1):c.4159C>T (p.Arg1387Trp)	rs201017334	0.00039
NM_014989.7(RIMS1):c.3703G>A (p.Gly1235Arg)	rs200637817	0.00033
NM_014989.7(RIMS1):c.3430C>T (p.Arg1144Ter)	rs202076893	0.00024
NM_014989.7(RIMS1):c.1744T>G (p.Ser582Ala)	rs377567871	0.00010
NM_014989.7(RIMS1):c.2894C>T (p.Pro965Leu)	rs752875047	0.00010
NM_014989.7(RIMS1):c.3588C>T (p.His1196=)	rs762158019	0.00009
NM_014989.7(RIMS1):c.*2386T>G	rs886061723	0.00007
NM_014989.7(RIMS1):c.1088G>T (p.Arg363Leu)	rs371189625	0.00007
NM_014989.7(RIMS1):c.*44G>A	rs762926493	0.00006
NM_014989.7(RIMS1):c.2459G>A (p.Arg820His)	rs121918302	0.00006
NM_014989.7(RIMS1):c.*1025G>T	rs538581208	0.00005
NM_014989.7(RIMS1):c.*1682C>T	rs886061721	0.00005
NM_014989.7(RIMS1):c.*397G>A	rs575379426	0.00005
NM_014989.7(RIMS1):c.1311G>A (p.Arg437=)	rs769837216	0.00005
NM_014989.7(RIMS1):c.*2132A>G	rs985097971	0.00004
NM_014989.7(RIMS1):c.*453G>C	rs555043314	0.00004
NM_014989.7(RIMS1):c.2758G>A (p.Val920Ile)	rs376566413	0.00004
NM_014989.7(RIMS1):c.2890A>G (p.Lys964Glu)	rs767699562	0.00004
NM_014989.7(RIMS1):c.3785C>T (p.Ser1262Leu)	rs757548948	0.00004
NM_014989.7(RIMS1):c.*542A>T	rs774599192	0.00003
NM_014989.7(RIMS1):c.1297A>G (p.Thr433Ala)	rs996767502	0.00002
NM_014989.7(RIMS1):c.1723C>T (p.Arg575Trp)	rs767118962	0.00002
NM_014989.7(RIMS1):c.1784G>A (p.Arg595Gln)	rs368099198	0.00002
NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter)	rs528476500	0.00002
NM_014989.7(RIMS1):c.672A>G (p.Thr224=)	rs778273984	0.00002
NM_014989.7(RIMS1):c.*202G>C	rs1265999499	0.00001
NM_014989.7(RIMS1):c.*545C>A	rs886061714	0.00001
NM_014989.7(RIMS1):c.1386G>A (p.Pro462=)	rs946973429	0.00001
NM_014989.7(RIMS1):c.1556C>T (p.Ser519Phe)	rs886061707	0.00001
NM_014989.7(RIMS1):c.1679-20563C>T	rs891525901	0.00001
NM_014989.7(RIMS1):c.2024T>C (p.Ile675Thr)	rs762108313	0.00001
NM_014989.7(RIMS1):c.2241T>C (p.Ser747=)	rs760492397	0.00001
NM_014989.7(RIMS1):c.2370A>G (p.Arg790=)	rs531497232	0.00001
NM_014989.7(RIMS1):c.2545-4T>C	rs747921988	0.00001
NM_014989.7(RIMS1):c.2708G>A (p.Arg903Gln)	rs776822598	0.00001
NM_014989.7(RIMS1):c.2827C>G (p.Gln943Glu)	rs2076646164	0.00001
NM_014989.7(RIMS1):c.2865T>C (p.Ser955=)	rs2076658233	0.00001
NM_014989.7(RIMS1):c.2896C>T (p.Arg966Cys)	rs764444309	0.00001
NM_014989.7(RIMS1):c.3249C>T (p.Ser1083=)	rs769791945	0.00001
NM_014989.7(RIMS1):c.3279A>G (p.Val1093=)	rs375979731	0.00001
NM_014989.7(RIMS1):c.3281T>G (p.Leu1094Trp)	rs761114297	0.00001
NM_014989.7(RIMS1):c.3589G>A (p.Ala1197Thr)	rs770686490	0.00001
NM_014989.7(RIMS1):c.4111C>T (p.Arg1371Cys)	rs995769455	0.00001
NM_014989.7(RIMS1):c.4442T>C (p.Met1481Thr)	rs200471435	0.00001
NM_014989.7(RIMS1):c.4512A>G (p.Ile1504Met)	rs746893761	0.00001
NM_014989.7(RIMS1):c.459C>T (p.Asn153=)	rs1238525429	0.00001
NM_014989.7(RIMS1):c.*1134C>T	rs1175994935
NM_014989.7(RIMS1):c.*1230A>C	rs1379307160
NM_014989.7(RIMS1):c.*1355C>T	rs886061716
NM_014989.7(RIMS1):c.*1446A>G	rs886061719
NM_014989.7(RIMS1):c.*189A>T	rs1409375849
NM_014989.7(RIMS1):c.*2357C>G	rs2098844396
NM_014989.7(RIMS1):c.*864G>T	rs886061715
NM_014989.7(RIMS1):c.*941T>C	rs2098836015
NM_014989.7(RIMS1):c.-181G>A	rs886061704
NM_014989.7(RIMS1):c.1364G>A (p.Gly455Glu)	rs2048555576
NM_014989.7(RIMS1):c.164A>T (p.Lys55Met)	rs777506314
NM_014989.7(RIMS1):c.1679-16551C>T	rs1012788466
NM_014989.7(RIMS1):c.1679-20589C>T
NM_014989.7(RIMS1):c.1679-20601G>A	rs2054153366
NM_014989.7(RIMS1):c.1704T>C (p.Asp568=)	rs886061708
NM_014989.7(RIMS1):c.1888C>T (p.Arg630Ter)
NM_014989.7(RIMS1):c.1957+10C>A	rs376761576
NM_014989.7(RIMS1):c.1957+5dup	rs755711003
NM_014989.7(RIMS1):c.2077A>G (p.Ile693Val)	rs765521036
NM_014989.7(RIMS1):c.2241+14G>A	rs1590432210
NM_014989.7(RIMS1):c.2333G>A (p.Arg778Gln)
NM_014989.7(RIMS1):c.2553A>G (p.Ile851Met)	rs2073159102
NM_014989.7(RIMS1):c.2626C>A (p.Pro876Thr)
NM_014989.7(RIMS1):c.2696A>G (p.Gln899Arg)	rs2073215261
NM_014989.7(RIMS1):c.2787T>G (p.Ser929Arg)	rs2076629294
NM_014989.7(RIMS1):c.2792G>A (p.Arg931Lys)	rs776281976
NM_014989.7(RIMS1):c.2868T>C (p.Pro956=)	rs2076660465
NM_014989.7(RIMS1):c.29C>G (p.Pro10Arg)	rs546636252
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs)	rs587783021
NM_014989.7(RIMS1):c.3338G>C (p.Arg1113Thr)	rs2154175134
NM_014989.7(RIMS1):c.3554+13T>C	rs2091432283
NM_014989.7(RIMS1):c.3919G>A (p.Gly1307Arg)	rs2095260209
NM_014989.7(RIMS1):c.3959C>A (p.Ser1320Tyr)	rs140943787
NM_014989.7(RIMS1):c.4067C>T (p.Ala1356Val)	rs2095619223
NM_014989.7(RIMS1):c.4444G>A (p.Val1482Ile)	rs2098688415
NM_014989.7(RIMS1):c.4459C>T (p.Arg1487Ter)
NM_014989.7(RIMS1):c.4970A>G (p.Lys1657Arg)	rs2098829238
NM_014989.7(RIMS1):c.797A>G (p.Glu266Gly)
NM_014989.7(RIMS1):c.812+10C>T
NM_014989.7(RIMS1):c.913G>C (p.Val305Leu)	rs886061705
NM_014989.7(RIMS1):c.928C>G (p.Arg310Gly)	rs758719701
NM_014989.7(RIMS1):c.954G>C (p.Arg318Ser)	rs2048521720

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